Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Additional Information
    • Publication Date:
      2013
    • Collection:
      University College London: UCL Discovery
    • Abstract:
      Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, infertility and body axis laterality defects. We applied a next-generation sequencing approach to identify the gene responsible for this phenotype in two consanguineous families.
    • File Description:
      application/pdf; video/avi
    • Online Access:
      http://discovery.ucl.ac.uk/1414887/1/J_Med_Genet-2013-Onoufriadis-jmedgenet-2013-101938.pdf
      http://discovery.ucl.ac.uk/1414887/2/jmedgenet-2013-101938supp_figure1.pdf
      http://discovery.ucl.ac.uk/1414887/3/jmedgenet-2013-101938supp_figure2.pdf
      http://discovery.ucl.ac.uk/1414887/4/jmedgenet-2013-101938supp_table1.pdf
      http://discovery.ucl.ac.uk/1414887/5/jmedgenet-2013-101938supp_table2.pdf
      http://discovery.ucl.ac.uk/1414887/6/jmedgenet-2013-101938supp_table3.pdf
      http://discovery.ucl.ac.uk/1414887/7/jmedgenet-2013-101938supp_table4.pdf
      http://discovery.ucl.ac.uk/1414887/8/jmedgenet-2013-101938supp_video1.avi
      http://discovery.ucl.ac.uk/1414887/9/jmedgenet-2013-101938supp_video2.avi
      http://discovery.ucl.ac.uk/1414887/
    • Rights:
      open
    • Accession Number:
      edsbas.7D19678C